Product Details

SNP ID

rs151247557

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48373640 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCTGCAGCTTTGCCGTGGGAGCC[A/G]GCTTCCTGGCCTTCCTCAGCTGCCT

Phenotype

MIM: 131235 MIM: 608373

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KDELR1 PubMed Links

Gene Details

Gene

KDELR1

Gene Name

KDEL endoplasmic reticulum protein retention receptor 1

There are no transcripts associated with this gene.

Gene

SYNGR4

Gene Name

synaptogyrin 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012451.3	702	Missense Mutation	AGC,GGC	S73G	NP_036583.2
XM_005258693.2	702	Missense Mutation	AGC,GGC	S73G	XP_005258750.1
XM_005258694.2	702	Missense Mutation	AGC,GGC	S73G	XP_005258751.1
XM_011526686.2	702	Missense Mutation	AGC,GGC	S24G	XP_011524988.1
XM_017026541.1	702	Missense Mutation	AGC,GGC	S24G	XP_016882030.1

Gene

TMEM143

Gene Name

transmembrane protein 143

There are no transcripts associated with this gene.

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